Congenital analbuminemia (ANALBA) is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin. Congenital analbuminemia is caused by mutations in the albumin gene. Patients have few clinical symptoms of their condition other than mild edema, hypotension, fatigue and, occasionally, a peculiar lower-body lipodystrophy. In contrast to the benign presentation of analbuminemia after birth, fetal or neonatal death of siblings is frequently observed in the families of analbuminemic subjects.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Other metabolic disorders
5D0Y Other specified metabolic disorders
H00248 Analbuminemia
